DISEASES

Disease-gene associations mined from literature

Literature associating TRIM50 and Williams-Beuren syndrome

TRIM50 [ENSP00000327994]

E3 ubiquitin-protein ligase TRIM50; E3 ubiquitin-protein ligase that ubiquitinates Beclin-1/BECN1 in a 'Lys-63'-dependent manner enhancing its binding to ULK1. In turn, promotes starvation-induced autophagy activation. Interacts also with p62/SQSTM1 protein and thereby induces the formation and the autophagy clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction; Belongs to the TRIM/RBCC family.

Synonyms:  TRIM50,  TRIM50p,  hTRIM50,  Q2M204,  Q86XT4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM